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Items: 13

1.

Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma.

Damjanovich K, Baldwin EE, Lewis T, Bayrak-Toydemir P.

Ophthalmic Genet. 2013 Sep;34(3):180-1. doi: 10.3109/13816810.2012.743571. Epub 2012 Dec 6. No abstract available.

PMID:
23215915
2.

Mosaicism in Stickler syndrome.

Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30.

3.

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P.

Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85.

4.

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir P.

J Med Genet. 2011 May;48(5):358-60. doi: 10.1136/jmg.2010.088286. Epub 2011 Mar 4.

PMID:
21378382
5.

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PMID:
21158752
6.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF.

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

PMID:
20949533
7.

p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P.

Indian J Pediatr. 2011 Jan;78(1):103-5. doi: 10.1007/s12098-010-0230-y. Epub 2010 Oct 6.

PMID:
20924721
8.

Experimental infection magnifies inbreeding depression in house mice.

Ilmonen P, Penn DJ, Damjanovich K, Clarke J, Lamborn D, Morrison L, Ghotbi L, Potts WK.

J Evol Biol. 2008 May;21(3):834-41. doi: 10.1111/j.1420-9101.2008.01510.x. Epub 2008 Feb 23.

9.

Major histocompatibility complex heterozygosity reduces fitness in experimentally infected mice.

Ilmonen P, Penn DJ, Damjanovich K, Morrison L, Ghotbi L, Potts WK.

Genetics. 2007 Aug;176(4):2501-8. Epub 2007 Jul 1.

10.

Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting.

Seipp MT, Durtschi JD, Liew MA, Williams J, Damjanovich K, Pont-Kingdon G, Lyon E, Voelkerding KV, Wittwer CT.

J Mol Diagn. 2007 Jul;9(3):284-9.

11.

Multiplex genotyping by melting analysis of loci-spanning probes: beta-globin as an example.

Pont-Kingdon G, Chou LS, Damjanovich K, Sumner K, Herrmann M, Erali M, Lyon E.

Biotechniques. 2007 Feb;42(2):193-7.

12.

Infection-dependent phenotypes in MHC-congenic mice are not due to MHC: can we trust congenic animals?

McClelland EE, Damjanovich K, Gardner K, Groesbeck ZJ, Ma MS, Nibley M, Richardson KS, Wilkinson M, Morrison LC, Bernhardt P, Potts WK.

BMC Immunol. 2004 Jul 9;5:14.

13.

MHC heterozygosity confers a selective advantage against multiple-strain infections.

Penn DJ, Damjanovich K, Potts WK.

Proc Natl Acad Sci U S A. 2002 Aug 20;99(17):11260-4. Epub 2002 Aug 12.

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